Results 171 to 180 of about 5,143 (201)

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report. [PDF]

Case Rep Neurol Med
Deardorff AS, Burford MJ, Rich MM.
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Enhancing Membrane Repair Using Recombinant MG53/TRIM72 (rhMG53) Reduces Neurotoxicity in Alzheimer's Disease Models. [PDF]

Biomolecules
Bulgart HR, Lopez Perez MA, Weisleder N.
europepmc   +1 more source

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy [PDF]

マツムラ, ツヨシ, 松村, 剛
core  

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
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Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy. [PDF]

Skelet Muscle
Lloyd EM, Crew RC, Haynes VR, White RB, Mark PJ, Jackaman C, Papadimitriou JM, Pinniger GJ, Murphy RM, Watt MJ, Grounds MD.   +10 more
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Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis. [PDF]

Neurol Genet
Bolano-Diaz CF, Reyngoudt H, Wilson IJ, James MK, Smith FE, Caldas de Almeida Araujo E, Gordish-Dressman H, Hilsden H, Rufibach LE, Wallace D, Ward L, Stramare R, Rampado A, Smith M, Boisserie JM, Le Louer J, Foster S, Peduto A, Sato N, Tamaru T, Sawyer AM, Day JW, Jones KJ, Walter MC, Stojkovic T, Mori-Yoshimura M, Mendell JR, Pegoraro E, Straub V, Blamire AM, Carlier P, Diaz-Manera J, Jain COS Consortium.   +32 more
europepmc   +1 more source

A versatile microfluidics platform for enhanced multi-target super-resolution microscopy

Basak S, Chi-Vu K, Mougios N, Oleksiievets N, Pollack Y, Brandenburg S, Opazo F, Lehnart SE, Enderlein J, Tsukanov R.   +9 more
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Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.

de Souza Leite F, Lambert MR, Zhang TY, Conner JR, Paulo JA, Oliveira SF, Thakurta S, Bowles J, Gussoni E, Gygi SP, Widrick JJ, Kunkel LM.   +11 more
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Dysfunction of dysferlin-deficient hearts

Journal of Molecular Medicine, 2007
Mutations in the gene encoding dysferlin cause limb-girdle muscular dystrophy 2B (LGMD2B), a disorder that is believed to spare the heart. We observed dilated cardiomyopathy in two out of seven LGMD2B patients and cardiac abnormalities in three others.
Katrin, Wenzel, Christian, Geier, Fatimunnisa, Qadri, Norbert, Hubner, Herbert, Schulz, Bettina, Erdmann, Volkmar, Gross, David, Bauer, Ralf, Dechend, Rainer, Dietz, Karl Josef, Osterziel, Simone, Spuler, Cemil, Ozcelik   +12 more
openaire   +2 more sources